Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:primary ovarian insufficiency 8
go back to main search page
Accession:DOID:0080865 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: POF8;   premature ovarian failure 8
 primary_id: OMIM:615723
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
primary ovarian insufficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by OMIM:615723
ClinVar Annotator: match by term: Premature ovarian failure 8
OMIM
ClinVar
PMID:24597867 PMID:25741868 PMID:28393351 NCBI chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                primary ovarian insufficiency 8 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              Adnexal Diseases 716
                ovarian disease 708
                  PRIMARY OVARIAN FAILURE 142
                    primary ovarian insufficiency 136
                      primary ovarian insufficiency 8 1
paths to the root